C0221757[trait identifier] AND "HerediLab, Inc."[submitter] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440487	NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)	SERPINA1 (M409T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 219371	NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile)	SERPINA1 (T403I)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219360	NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr)	SERPINA1 (P393T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 440488	NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp)	SERPINA1 (A379D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626307	NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys)	SERPINA1 (E378K)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626299	NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp)	SERPINA1 (A374D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219353	NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs)	SERPINA1 (E370fs)	Indel (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 626304	NM_000295.4(SERPINA1):c.[1096G>A;35T>C]	SERPINA1 (E366K +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 219357	NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val)	SERPINA1 (D365V)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency +2 more	GConflicting classifications of pathogenicity
Select item 219370	NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr)	SERPINA1 (D365Y)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219369	NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg)	SERPINA1 (K355R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440489	NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala)	SERPINA1 (S343A)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626301	NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys)	SERPINA1 (N338K)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440490	NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu)	SERPINA1 (K334E)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 692116	NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro)	SERPINA1 (T320P)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 440491	NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln)	SERPINA1 (E303Q)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440492	NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn)	SERPINA1 (K298N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219368	NM_000295.5(SERPINA1):c.879C>G (p.His293Gln)	SERPINA1 (H293Q)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440493	NM_000295.5(SERPINA1):c.878A>G (p.His293Arg)	SERPINA1 (H293R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440499	NM_000295.5(SERPINA1):c.866dup (p.Asn289fs)	SERPINA1 (N289fs)	Duplication (frameshift variant)	Alpha-1-antitrypsin deficiency +1 more	GPathogenic/Likely pathogenic
Select item 626305	NM_000295.4(SERPINA1):c.[1158dupC;863A>T]	SERPINA1 (E288V +1 more)	Single nucleotide variant (missense variant +1 more)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 440501	NC_000014.9:g.[94380925T>A;94383048G>T]	SERPINA1 (E288V +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 440500	NC_000014.9:g.[94380925T>A;94382636T>C]	SERPINA1 (E288V +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 219355	NM_000295.5(SERPINA1):c.848A>T (p.Lys283Ile)	SERPINA1 (K283I)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 626306	NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)	SERPINA1 (L278P)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 692115	NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe)	SERPINA1 (S260F)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626300	NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg)	SERPINA1 (Q254R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219354	NM_001127701.1(SERPINA1):c.[187C>T;739C>T]	SERPINA1 (R247C +1 more)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 219367	NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr)	SERPINA1 (K246T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219366	NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile)	SERPINA1 (M245I)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440494	NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser)	SERPINA1 (P243S)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219372	NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg)	SERPINA1 (Q236R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440495	NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu)	SERPINA1 (F222L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626302	NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys)	SERPINA1 (W218C)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440496	NM_000295.5(SERPINA1):c.647del	SERPINA1	Deletion	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 219365	NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His)	SERPINA1 (Y211H)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626303	NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs)	SERPINA1 (D195fs)	Indel (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 440497	NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu)	SERPINA1 (Q180E)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219364	NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter)	SERPINA1 (Q180*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 692117	NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn)	SERPINA1 (D157N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440498	NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val)	SERPINA1 (G119V)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626308	NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp)	SERPINA1 (E99D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626298	NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)	SERPINA1 (A82P)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 219359	NM_000295.5(SERPINA1):c.236T>A (p.Val79Glu)	SERPINA1 (V79E)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 219363	NM_000295.5(SERPINA1):c.199C>A (p.His67Asn)	SERPINA1 (H67N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219358	NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu)	SERPINA1 (R63L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219356	NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg)	SERPINA1 (S60R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219362	NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn)	SERPINA1 (K34N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219361	NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val)	SERPINA1 (D30V)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign

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Items: 49